Canonical Allele Identifier: CA361697145

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149899521C>A , CM000667.2:g.149899521C>A	GRCh38
NC_000005.9:g.149279084C>A , CM000667.1:g.149279084C>A	GRCh37
NC_000005.8:g.149259277C>A	NCBI36
NG_009102.1:g.50273G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000440.3:c.1117G>T MANE Select	NP_000431.2:p.Glu373Ter
ENST00000255266.10:c.1117G>T MANE Select	ENSP00000255266.5:p.Glu373Ter
NM_000440.2:c.1117G>T	NP_000431.2:p.Glu373Ter
ENST00000255266.9:c.1117G>T	ENSP00000255266.5:p.Glu373Ter
ENST00000508173.5:n.1237G>T
ENST00000613228.1:c.874G>T	ENSP00000478060.1:p.Glu292Ter
ENST00000617647.4:c.874G>T	ENSP00000482774.1:p.Glu292Ter
XM_011537648.1:c.1117G>T	XP_011535950.1:p.Glu373Ter
XM_011537649.1:c.571G>T	XP_011535951.1:p.Glu191Ter
XM_011537650.1:c.232G>T	XP_011535952.1:p.Glu78Ter
XM_011537650.2:c.232G>T	XP_011535952.1:p.Glu78Ter
XM_011537651.1:c.70G>T	XP_011535953.1:p.Glu24Ter
XM_011537651.2:c.70G>T	XP_011535953.1:p.Glu24Ter
XM_011537652.1:c.40G>T	XP_011535954.1:p.Glu14Ter
XM_011537653.1:c.40G>T	XP_011535955.1:p.Glu14Ter
XM_011537653.2:c.40G>T	XP_011535955.1:p.Glu14Ter
XM_011537654.1:c.40G>T	XP_011535956.1:p.Glu14Ter
XM_011537654.2:c.40G>T	XP_011535956.1:p.Glu14Ter
XM_017009572.2:c.874G>T	XP_016865061.1:p.Glu292Ter